A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419076



Internal ID15236130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31623525..31624267hg38UCSC Ensembl
Innerchr18:29203488..29204230hg19UCSC Ensembl
Innerchr18:27457486..27458228hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38743
hg19743
hg18743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819046
Supporting Variants
SamplesAK1
Known GenesB4GALT6
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1419076
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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